DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Motor and Sensory Neuropathy Type I, C0751036

Disease: Hereditary liability to pressure palsies

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs281865127	MPZ	0.827	0.120	1	161306767	missense variant	T/C	snv			5
rs104894623	PMP22	0.851	0.200	17	15239591	missense variant	C/G;T	snv			4
rs104894625	PMP22	0.851	0.120	17	15260663	missense variant	G/A;T	snv			4
rs80338763	PMP22	0.851	0.200	17	15239509	frameshift variant	C/-;CC	delins			4